Varaico: Literature-Extracted Genetic Variants

Gene:LRRC8D
Variant:p.E458G

LRRC8D

41 papers

Pfam Domains

Pannexin_likeaa 1–384UCSCPannexin-like TM region of LRRC8
LRR_8aa 635–695UCSCLeucine rich repeat
LRR_8aa 683–741UCSCLeucine rich repeat

Gene Aliases

HGNC Name

leucine rich repeat containing 8 VRAC subunit D

HGNC Alias Symbol

FLJ10470

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_001134479.2
p.E458G
c.1373A>G
Surrounding Variants
1 paper
NM_001134479.2
p.R466C
c.1396C>T
1 paper
NM_001134479.2
p.L438fs
c.1312_1313fs
1 paper
NM_001134479.2
p.L497R
c.1490T>G
1 paper
NM_001134479.2
p.P410S
c.1228C>T
1 paper
NM_001134479.2
p.S407G
c.1219A>G
1 paper
NM_001134479.2
p.F388fs
c.1162_1163fs
1 paper
NM_001134479.2
p.M361I
c.1083G>A
1 paper
NM_001134479.2
p.Y557H
c.1669T>C
1 paper
NM_001134479.2
p.K560fs
c.1678_1679fs
1 paper
NM_001134479.2
p.T355del1
c.1063_1064delACC
1 paper
NM_001134479.2
p.E564V
c.1691A>T
1 paper
NM_001134479.2
p.P341delFs
c.1023delC
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